The UCSC Genome Browser Introduction. Osvaldo Graña Bioinformatics Unit, CNIO

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1 The UCSC Genome Browser Introduction Osvaldo Graña Bioinformatics Unit, CNIO 1

2 Organization of genomic data sequence Annotation Tracks Genome backbone: base position number chromosome band sts sites gap locations known genes predicted genes microarray/expression data evolutionary conservation SNPs repeated regions more Links out to more data 2

3 A sample of what we will find: gene details Annotation Tracks official sequence comparisons SNPs 3

4 UCSC Genome Browser Agenda Introduction Basic Searches Understanding Displays Get Details or Sequences Sequence Searches (BLAT) in silico PCR Proteome Browser VisiGene Browser Exercises UCSC Genome Browser: 4

5 The UCSC Homepage: navigate navigate General information Specific information new features, current status, etc. 5

6 The Genome Browser Gateway start page, basic search text/id searches Helpful search examples, suggestions below Use this Gateway to search by: Gene names, symbols Chromosome number: chr7, or region: chr11: Keywords: kinase, receptor IDs: NP, NM, OMIM, and more See lower part of page for help with format 6

7 The Genome Browser Gateway start page choices, April Make your Gateway choices: Select Clade Select genome = species: search 1 species at a time Assembly: the official backbone DNA sequence Position: location in the genome to examine Image width: how many pixels in display window; 5000 max Configure: make fonts bigger + other choices 7

8 The Genome Browser Gateway sample search for Human TP53 Sample search: human, March 2006 assembly, tp53 select Select from results list ID search may go right to a viewer page, if unique 8

9 Overview of the whole Genome Browser page } (mature release) Genome viewer section Groups of data Mapping and Sequencing Tracks Phenotype and Disease Tracks Genes and Gene Prediction Tracks mrna and EST Tracks Expression and Regulation Comparative Genomics Variation and Repeats ENCODE Tracks 9

10 Different species, different tracks, same software Species may have different data tracks Layout, software, functions the same 10

11 Sample Genome Viewer image, TP53 region base position STS markers UCSC genes RefSeq genes MGC clones ESTs 17 species compared single species compared SNPs repeats 11

12 Visual Cues on the Genome Browser Tick marks; a single location (STS, SNP) 3' UTR exon < < < exon < exon < < < <ex 5' UTR Intron, and direction of transcription <<< or >>> Track colors may have meaning for example, UCSC Gene track: If there is a corresponding PDB entry, = black If there is a corresponding reviewed/validated seq, = dark blue If there is a non-refseq seq, = lightest blue For some tracks, the height of a bar is increased likelihood of an evolutionary relationship (conservation track) 12

13 Options for Changing Images: Upper Section Walk left or right Zoom in Zoom out click to zoom 3x and re-center Specify a position fonts, window, more Change your view or location with controls at the top Use base to get right down to the nucleotides Configure: to change font, window size, more 13

14 Annotation Track display options enforce changes Links to info and/or filters Some data is ON or OFF by default Menu links to info about the tracks: content, methods You change the view with pulldown menus Change track view After making changes, REFRESH to enforce the change 14

15 Annotation Track options, defined Hide: removes a track from view Dense: all items collapsed into a single line Squish: each item = separate line, but 50% height + packed Pack: each item separate, but efficiently stacked (full height) Full: each item on separate line 15

16 Reset, Hide, Configure or Refresh to change settings enforce any changes (hide, full, squish ) reset, back to defaults start from scratch You control the views Use pulldown menus Configure options page 16

17 Annotation Track options, if altered. important point: the browser remembers! Session information (the position you were examining) Track choices (squish, pack, full, etc) Filter parameters (if you changed the colors of any items, or the subset to be displayed) are all saved on your computer. When you come back in a couple of days to use it again, these will still be set. You may or may not intend this. To clear your cart or parameters, click default tracks OR 17

18 Click Any Viewer Object for Details Click the item New web page opens Many details and links to more data about TP53 Example: click your mouse anywhere on the TP53 line 18

19 informative description other resource links links to sequences Not all genes have This much detail. Click annotation track item for details pages microarray data Different annotation tracks carry different data. mrna secondary structure protein domains/structure homologs in other species Gene Ontology descriptions mrna descriptions pathways 19

20 Get DNA, with Extended Case/Color Options Use the DNA link at the top Plain or Extended options Change colors, fonts, etc. 20

21 Get Sequence from Details Pages Click a track, go to Sequence section of details page Click the item sequence section on detail page 21

22 UCSC Genome Browser Agenda Introduction and Credits Basic Searches Understanding Displays Get Details or Sequences Sequence Searches (BLAT) in silico PCR Proteome Browser VisiGene Browser Exercises UCSC Genome Browser: 22

23 Accessing the BLAT tool BLAT = BLAST-like Alignment Tool Rapid searches by INDEXING the entire genome Works best with high similarity matches See documentation and publication for details Kent, WJ. Genome Res :656 23

24 BLAT tool overview: Make choices Paste one or more sequences DNA limit bases Protein limit aa 25 total sequences submit Or upload 24

25 BLAT results, with links go to browser/viewer go to alignment detail Results with demo sequences, settings default; sort = Query, Score Score is a count of matches higher number, better match Click browser to go to Genome Browser image location (next slide) Click details to see the alignment to genomic sequence (2 nd slide) 25

26 BLAT results, browser link click to flip frame query From browser click in BLAT results A new line with your Sequence from BLAT Search appears! Watch out for reading frame! Click > to flip frame Base position = full and zoomed in enough to see amino acids 26

27 BLAT results, alignment details Your query Genomic match, color cues Side-by-side alignment yours genomic 27

28 UCSC Genome Browser Agenda Introduction and Credits Basic Searches Understanding Displays Get Details or Sequences Sequence Searches (BLAT) in silico PCR Proteome Browser VisiGene Browser Exercises UCSC Genome Browser: 28

29 In-Silico PCR: find genomic sequence using primers Select genome Enter primers Minimum 15 bases Flip reverse primer? Submit (note: the tool does not handle ambiguous bases at this time don t use Ns) 29

30 In Silico PCR: results location size your primers Tm for primers Genomic location shown, links to Genome Viewer Product size shown Your primers displayed, flipped if necessary Predicted genomic sequence shown Primer melting temperatures provided 30

31 Proteome Browser Access from homepage or UCSC Gene pages Exon diagram, amino acids Many protein properties (pi, mw, composition, 3D ) more data 31

32 VisiGene Image Browser VisiGene: Biological image data Expression in cells and tissues; mrna or protein Search by symbol, author, body parts, IDs, stages 32

33 UCSC Genome Browser Agenda Introduction and Credits Basic Searches Understanding Displays Get Details or Sequences Sequence Searches (BLAT) in silico PCR Proteome Browser VisiGene Browser Exercises UCSC Genome Browser: 33

35 Overview of the whole Genome Browser page (first day, new human release) }Genome viewer section Tracks are added to an assembly over time Not all are present in a new release at first Track and image controls (day 1 = 40 tracks) 35

Exercises for the UCSC Genome Browser Introduction

Exercises for the UCSC Genome Browser Introduction 1) Find out if the mouse Brca1 gene has non-synonymous SNPs, color them blue, and get external data about a codon-changing SNP. Skills: basic text search;